Huntington's disease like-2 neuropathology
Huntington's disease like-2 neuropathology
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DOI：
10.1002/mds.21417
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发表时间：
2007-07-30
影响因子：
8.6
通讯作者：
Joseph, Jeffrey T.
中科院分区：
文献类型：
--
作者：
Greenstein, Penny E.;Vonsattel, Jean-Paul G.;Joseph, Jeffrey T.
亨廷顿病样蛋白2（HDL-2）神经变性是最近描述的常染色体显性遗传疾病，其特征类似于亨廷顿病（HD）。只有一份病例报告描述了受影响患者的神经病理学。我们描述的临床表现，并说明在另外两个分子证实的患者的病理，比较这些与以前发表的情况下，并将它们与HD。我们检查了两名患者的HDL-2。他们的图表进行了审查，他们的大脑进行了检查，使用标准的神经病理学技术，包括免疫过氧化物酶染色，他们的诊断证实了PCR为基础的重复长度测定。第一个病人表现为强迫性多疑，而第二个病人则表现为抑郁和视力下降。两名患者都出现了音调和齿轮强直，但都没有出现舞蹈手足徐动症。广泛变性影响尾状核和壳核，尤其是背侧和外侧。此外，第一个病人表现出侧颞，侧额，眶额皮质萎缩，而第二个病人显示在枕叶和顶叶皮质明显变性。两名患者均未显示小脑或脑干的显著变化。两例均可见泛素免疫反应性神经元核内包涵体（NII）。在此回顾的HDL-2缺乏的患者中，值得注意的是具有帕金森综合征的显著额叶抑制，缺乏舞蹈样运动，以及非洲血统。在病理学上，HDL-2对新纹状体的作用与HD相似，但至少在某些情况下，其局灶性皮质受累程度（包括枕叶）可能不同。(c)2007年，《社会运动》创刊。
Huntington's disease like-2 (HDL-2) neurodegeneration is a recently described autosomal dominant disorder with features similar to Huntington's disease (HD). Only one case report has described neuropathology from an affected patient. We describe the clinical presentation and illustrate the pathology in two additional molecularly confirmed patients, compare these with the previously published case, and contrast them with HD. We examined two patients with HDL-2. Their charts were reviewed, their brains were examined using standard neuropathology techniques, including immunoperoxidase stains, and their diagnoses were confirmed with a PCR-based assay for repeat length. The first patient presented with obsessive suspiciousness, while the second had depression and decreased visual acuity. Both patients developed increased tone and cogwheel rigidity, but neither developed choreoathetosis. Extensive degeneration affected the caudate nucleus and putamen, especially dorsally and laterally. In addition, the first patient showed lateral temporal, lateral frontal, and orbitofrontal cortical atrophy, while the second patient displayed marked degeneration in the occipital and parietal cortices. Neither patient showed significant changes in the cerebellum or brainstem. Both cases had ubiquitin-immunoreactive neuronal intranuclear inclusions (NII). The patients with of HDL-2 reviewed here were remarkable for significant frontal inhibition with parkinsonism, a lack of choreiform movements, and African ancestry. Pathologically, HDL-2 is similar to HD in its effect on the neostriatum but may differ, at least in some cases, in its degree of focal cortical involvement, including the occipital lobe. (c) 2007 Movement Disorder Society.